Souied E, Pisella P J, Ossareh B, Brézin A, Junes P, Wild-Decrette C, Munnich A, Bonnefont J P, Mondon H
Service d'Ophtalmologie, Hôpital Cochin, Paris.
J Fr Ophtalmol. 1997;20(1):65-70.
Leber's hereditary optic neuropathy (LHON) is a bilateral optic atrophy, more common in males than in females. No specific clinical feature or biologic test exists to evidence LHON. We report here the case of a man affected with a nonfamilial bilateral optic atrophy, whose diagnostic remained uncertain for 17 years.
This patient was hospitalized at the age of 27 in order to establish diagnosis. He had an ophthalmologic examination once a year. He was also affected with chronic renal failure. Detection of the G to A mutation at position 11778 of the DNA was assessed by restriction enzyme digestion of amplified genomic DNA.
The 11778 mitochondrial DNA mutation was evidenced, in homoplasmic condition in white blood cells.
Molecular biology allows to substantiate the diagnosis of LHON and is relatively easy and cheap. Assessment of mitochondrial DNA provides a useful diagnostic tool for nonfamilial or atypical cases of LHON.
Leber遗传性视神经病变（LHON）是一种双侧视神经萎缩，男性比女性更常见。目前尚无特定的临床特征或生物学检测方法来确诊LHON。我们在此报告一例患有非家族性双侧视神经萎缩的男性病例，其诊断长达17年仍不明确。
该患者27岁时住院以明确诊断。他每年进行一次眼科检查。他还患有慢性肾衰竭。通过对扩增的基因组DNA进行限制性内切酶消化来评估DNA第11778位的G到A突变。
在白细胞中证实存在11778线粒体DNA突变，且为纯质状态。
分子生物学有助于确诊LHON，且相对简便、成本低廉。线粒体DNA评估为LHON的非家族性或非典型病例提供了一种有用的诊断工具。
